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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R964C
cDNA Position: 2890 c → t (exon 18)
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Disease | Genetics | Frequency | Reference |
Mitochondrial toxicity susceptibility to NRTIs | Found in a HIV1 patient with hyperlactatemia following 1 yr. of d4T and 3TC anti-viral treatment | Not found in 26 Thai HIV-1-infected individuals, or 110 healthy volunteers | (Yamanaka et al., 2007) PubMed |
Ataxia Neuropathy | Found in trans w/ A862T, and found as a heterozygous mutation w/ ataxia and hypotonia | (Wong et al., 2008) PubMed |
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Cerebellar ataxia, neuropathy, epilepsy, and restless leg syndrome | Found heterozygous with A862T in 2 siblings that died in their early 20’s | (Stricker et al., 2009) PubMed |
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Ataxia | Found in trans w/ A962T in a 14 y.o. w/ ataxia, muscle weakness, and central hypoventilation | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
PEO | Found in trans w/Q53-Q55 duplicate in an 8 y.o. male with recessive ataxia, PEO, and hyoptonia | Ohba et al., 2013 PubMed |
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Ovarian dysfunction | Found one homozygous female with irregular menstrual cycles and abnormal oocytes. | (Chen et al., 2018) PubMed |
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Young onset Parkinson's disease | Found as heterozygous in cis with GBA L444P in a 59-year-old male presenting with right hand tremor at the age of 39 years, followed by slow movement, rigidity, and postural instability. | (Hsieh et al., 2019) PubMed |
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MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |
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Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |